Protein Name fibroblast growth factor receptor 3
Organism Homo sapiens
Gene ID 2261
Gene Symbol

FGFR3

UniProt P22607 (FGFR3_HUMAN), Q0IJ44 (Q0IJ44_HUMAN)
Relationships Total Number of functionally related compound(s) : 183
Total Number of Articles : 263
Description

fibroblast growth factor receptor 3

Gene Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]

synonyms
  • fibroblast growth factor receptor 3
  • FGFR-3
  • fibroblast growth factor receptor 3-S
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Properties